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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 14874

FusionGeneSummary for GNAS_FHIT

check button Fusion gene summary
Fusion gene informationFusion gene name: GNAS_FHIT
Fusion gene ID: 14874
HgeneTgene
Gene symbol

GNAS

FHIT

Gene ID

2778

2272

Gene nameGNAS complex locusfragile histidine triad
SynonymsAHO|C20orf45|GNAS1|GPSA|GSA|GSP|NESP|PITA3|POH|SCG6|SgVIAP3Aase|FRA3B
Cytomap

20q13.32

3p14.2

Type of geneprotein-codingprotein-coding
Descriptionprotein ALEXprotein GNASprotein SCG6 (secretogranin VI)G protein subunit alpha Sadenylate cyclase-stimulating G alpha proteinalternative gene product encoded by XL-exonextra large alphas proteinguanine nucleotide binding protein (G protein), alpha bis(5'-adenosyl)-triphosphataseAP3A hydrolasediadenosine 5',5'''-P1,P3-triphosphate hydrolasedinucleosidetriphosphatase
Modification date2018052320180519
UniProtAcc

Q5JWF2

P49789

Ensembl transtripts involved in fusion geneENST00000313949, ENST00000371098, 
ENST00000371075, ENST00000371100, 
ENST00000371099, ENST00000371102, 
ENST00000464624, ENST00000306120, 
ENST00000371095, ENST00000371085, 
ENST00000354359, ENST00000265620, 
ENST00000306090, ENST00000371081, 
ENST00000476844, ENST00000492590, 
ENST00000466788, ENST00000468189, 
ENST00000341848, 
Fusion gene scores* DoF score34 X 18 X 17=1040417 X 7 X 10=1190
# samples 4620
** MAII scorelog2(46/10404*10)=-4.49936063299862
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(20/1190*10)=-2.57288966842058
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: GNAS [Title/Abstract] AND FHIT [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgeneFHIT

GO:0006163

purine nucleotide metabolic process

9323207


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1BP430864GNASchr20

57484792

+FHITchr3

59784450

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
3UTR-intronENST00000313949ENST00000476844GNASchr20

57484792

+FHITchr3

59784450

-
3UTR-intronENST00000313949ENST00000492590GNASchr20

57484792

+FHITchr3

59784450

-
3UTR-intronENST00000313949ENST00000466788GNASchr20

57484792

+FHITchr3

59784450

-
3UTR-intronENST00000313949ENST00000468189GNASchr20

57484792

+FHITchr3

59784450

-
3UTR-intronENST00000313949ENST00000341848GNASchr20

57484792

+FHITchr3

59784450

-
intron-intronENST00000371098ENST00000476844GNASchr20

57484792

+FHITchr3

59784450

-
intron-intronENST00000371098ENST00000492590GNASchr20

57484792

+FHITchr3

59784450

-
intron-intronENST00000371098ENST00000466788GNASchr20

57484792

+FHITchr3

59784450

-
intron-intronENST00000371098ENST00000468189GNASchr20

57484792

+FHITchr3

59784450

-
intron-intronENST00000371098ENST00000341848GNASchr20

57484792

+FHITchr3

59784450

-
3UTR-intronENST00000371075ENST00000476844GNASchr20

57484792

+FHITchr3

59784450

-
3UTR-intronENST00000371075ENST00000492590GNASchr20

57484792

+FHITchr3

59784450

-
3UTR-intronENST00000371075ENST00000466788GNASchr20

57484792

+FHITchr3

59784450

-
3UTR-intronENST00000371075ENST00000468189GNASchr20

57484792

+FHITchr3

59784450

-
3UTR-intronENST00000371075ENST00000341848GNASchr20

57484792

+FHITchr3

59784450

-
5CDS-intronENST00000371100ENST00000476844GNASchr20

57484792

+FHITchr3

59784450

-
5CDS-intronENST00000371100ENST00000492590GNASchr20

57484792

+FHITchr3

59784450

-
5CDS-intronENST00000371100ENST00000466788GNASchr20

57484792

+FHITchr3

59784450

-
5CDS-intronENST00000371100ENST00000468189GNASchr20

57484792

+FHITchr3

59784450

-
5CDS-intronENST00000371100ENST00000341848GNASchr20

57484792

+FHITchr3

59784450

-
intron-intronENST00000371099ENST00000476844GNASchr20

57484792

+FHITchr3

59784450

-
intron-intronENST00000371099ENST00000492590GNASchr20

57484792

+FHITchr3

59784450

-
intron-intronENST00000371099ENST00000466788GNASchr20

57484792

+FHITchr3

59784450

-
intron-intronENST00000371099ENST00000468189GNASchr20

57484792

+FHITchr3

59784450

-
intron-intronENST00000371099ENST00000341848GNASchr20

57484792

+FHITchr3

59784450

-
5CDS-intronENST00000371102ENST00000476844GNASchr20

57484792

+FHITchr3

59784450

-
5CDS-intronENST00000371102ENST00000492590GNASchr20

57484792

+FHITchr3

59784450

-
5CDS-intronENST00000371102ENST00000466788GNASchr20

57484792

+FHITchr3

59784450

-
5CDS-intronENST00000371102ENST00000468189GNASchr20

57484792

+FHITchr3

59784450

-
5CDS-intronENST00000371102ENST00000341848GNASchr20

57484792

+FHITchr3

59784450

-
3UTR-intronENST00000464624ENST00000476844GNASchr20

57484792

+FHITchr3

59784450

-
3UTR-intronENST00000464624ENST00000492590GNASchr20

57484792

+FHITchr3

59784450

-
3UTR-intronENST00000464624ENST00000466788GNASchr20

57484792

+FHITchr3

59784450

-
3UTR-intronENST00000464624ENST00000468189GNASchr20

57484792

+FHITchr3

59784450

-
3UTR-intronENST00000464624ENST00000341848GNASchr20

57484792

+FHITchr3

59784450

-
intron-intronENST00000306120ENST00000476844GNASchr20

57484792

+FHITchr3

59784450

-
intron-intronENST00000306120ENST00000492590GNASchr20

57484792

+FHITchr3

59784450

-
intron-intronENST00000306120ENST00000466788GNASchr20

57484792

+FHITchr3

59784450

-
intron-intronENST00000306120ENST00000468189GNASchr20

57484792

+FHITchr3

59784450

-
intron-intronENST00000306120ENST00000341848GNASchr20

57484792

+FHITchr3

59784450

-
5CDS-intronENST00000371095ENST00000476844GNASchr20

57484792

+FHITchr3

59784450

-
5CDS-intronENST00000371095ENST00000492590GNASchr20

57484792

+FHITchr3

59784450

-
5CDS-intronENST00000371095ENST00000466788GNASchr20

57484792

+FHITchr3

59784450

-
5CDS-intronENST00000371095ENST00000468189GNASchr20

57484792

+FHITchr3

59784450

-
5CDS-intronENST00000371095ENST00000341848GNASchr20

57484792

+FHITchr3

59784450

-
5CDS-intronENST00000371085ENST00000476844GNASchr20

57484792

+FHITchr3

59784450

-
5CDS-intronENST00000371085ENST00000492590GNASchr20

57484792

+FHITchr3

59784450

-
5CDS-intronENST00000371085ENST00000466788GNASchr20

57484792

+FHITchr3

59784450

-
5CDS-intronENST00000371085ENST00000468189GNASchr20

57484792

+FHITchr3

59784450

-
5CDS-intronENST00000371085ENST00000341848GNASchr20

57484792

+FHITchr3

59784450

-
5CDS-intronENST00000354359ENST00000476844GNASchr20

57484792

+FHITchr3

59784450

-
5CDS-intronENST00000354359ENST00000492590GNASchr20

57484792

+FHITchr3

59784450

-
5CDS-intronENST00000354359ENST00000466788GNASchr20

57484792

+FHITchr3

59784450

-
5CDS-intronENST00000354359ENST00000468189GNASchr20

57484792

+FHITchr3

59784450

-
5CDS-intronENST00000354359ENST00000341848GNASchr20

57484792

+FHITchr3

59784450

-
5CDS-intronENST00000265620ENST00000476844GNASchr20

57484792

+FHITchr3

59784450

-
5CDS-intronENST00000265620ENST00000492590GNASchr20

57484792

+FHITchr3

59784450

-
5CDS-intronENST00000265620ENST00000466788GNASchr20

57484792

+FHITchr3

59784450

-
5CDS-intronENST00000265620ENST00000468189GNASchr20

57484792

+FHITchr3

59784450

-
5CDS-intronENST00000265620ENST00000341848GNASchr20

57484792

+FHITchr3

59784450

-
5CDS-intronENST00000306090ENST00000476844GNASchr20

57484792

+FHITchr3

59784450

-
5CDS-intronENST00000306090ENST00000492590GNASchr20

57484792

+FHITchr3

59784450

-
5CDS-intronENST00000306090ENST00000466788GNASchr20

57484792

+FHITchr3

59784450

-
5CDS-intronENST00000306090ENST00000468189GNASchr20

57484792

+FHITchr3

59784450

-
5CDS-intronENST00000306090ENST00000341848GNASchr20

57484792

+FHITchr3

59784450

-
intron-intronENST00000371081ENST00000476844GNASchr20

57484792

+FHITchr3

59784450

-
intron-intronENST00000371081ENST00000492590GNASchr20

57484792

+FHITchr3

59784450

-
intron-intronENST00000371081ENST00000466788GNASchr20

57484792

+FHITchr3

59784450

-
intron-intronENST00000371081ENST00000468189GNASchr20

57484792

+FHITchr3

59784450

-
intron-intronENST00000371081ENST00000341848GNASchr20

57484792

+FHITchr3

59784450

-

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FusionProtFeatures for GNAS_FHIT


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
GNAS

Q5JWF2

FHIT

P49789

Guanine nucleotide-binding proteins (G proteins)function as transducers in numerous signaling pathways controlledby G protein-coupled receptors (GPCRs). Signaling involves theactivation of adenylyl cyclases, resulting in increased levels ofthe signaling molecule cAMP. GNAS functions downstream of severalGPCRs, including beta-adrenergic receptors. XLas isoforms interactwith the same set of receptors as GNAS isoforms (By similarity).{ECO:0000250|UniProtKB:Q6R0H7}. Cleaves P(1)-P(3)-bis(5'-adenosyl) triphosphate (Ap3A)to yield AMP and ADP. Can also hydrolyze P(1)-P(4)-bis(5'-adenosyl) tetraphosphate (Ap4A), but has extremely low activitywith ATP. Modulates transcriptional activation by CTNNB1 andthereby contributes to regulate the expression of genes essentialfor cell proliferation and survival, such as CCND1 and BIRC5.Plays a role in the induction of apoptosis via SRC and AKT1signaling pathways. Inhibits MDM2-mediated proteasomal degradationof p53/TP53 and thereby plays a role in p53/TP53-mediatedapoptosis. Induction of apoptosis depends on the ability of FHITto bind P(1)-P(3)-bis(5'-adenosyl) triphosphate or relatedcompounds, but does not require its catalytic activity, it may inpart come from the mitochondrial form, which sensitizes the low-affinity Ca(2+) transporters, enhancing mitochondrial calciumuptake. Functions as tumor suppressor.{ECO:0000269|PubMed:12574506, ECO:0000269|PubMed:15313915,ECO:0000269|PubMed:16407838, ECO:0000269|PubMed:18077326,ECO:0000269|PubMed:19622739, ECO:0000269|PubMed:8794732,ECO:0000269|PubMed:9323207}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

.

* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for GNAS_FHIT


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for GNAS_FHIT


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for GNAS_FHIT


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneFHITP49789DB04173FructoseBis(5'-adenosyl)-triphosphatasesmall moleculeapproved|experimental

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RelatedDiseases for GNAS_FHIT


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneGNASC3494506Pseudohypoparathyroidism, Type Ia13CTD_human;ORPHANET;UNIPROT
HgeneGNASC0242292McCune-Albright Syndrome5ORPHANET;UNIPROT
HgeneGNASC2931404Albright's hereditary osteodystrophy4CTD_human
HgeneGNASC0016065Polyostotic fibrous dysplasia3CTD_human;HPO;ORPHANET
HgeneGNASC0033806Pseudohypoparathyroidism3CTD_human;HPO
HgeneGNASC1857451Acth-Independent Macronodular Adrenal Hyperplasia3ORPHANET;UNIPROT
HgeneGNASC0014130Endocrine System Diseases2CTD_human
HgeneGNASC0034013Precocious Puberty2CTD_human;HPO
HgeneGNASC0221263Cafe-au-Lait Spots2CTD_human
HgeneGNASC0001206Acromegaly1CTD_human;HPO
HgeneGNASC0001624Adrenal Gland Neoplasms1CTD_human
HgeneGNASC0011573Endogenous depression1PSYGENET
HgeneGNASC0019087Hemorrhagic Disorders1CTD_human
HgeneGNASC0020538Hypertensive disease1CTD_human;HPO
HgeneGNASC0021655Insulin Resistance1CTD_human
HgeneGNASC0023897Liver Diseases, Parasitic1CTD_human
HgeneGNASC0027819Neuroblastoma1CTD_human
HgeneGNASC0028754Obesity1CTD_human;HPO
HgeneGNASC0029396Heterotopic Ossification1CTD_human;HPO
HgeneGNASC0032460Polycystic Ovary Syndrome1CTD_human
HgeneGNASC0033835Pseudopseudohypoparathyroidism1CTD_human;ORPHANET
HgeneGNASC0035204Respiration Disorders1CTD_human
HgeneGNASC0036341Schizophrenia1PSYGENET
HgeneGNASC0038587Substance Withdrawal Syndrome1CTD_human
HgeneGNASC0039231Tachycardia1CTD_human
HgeneGNASC0206698Cholangiocarcinoma1CTD_human
HgeneGNASC0221357Brachydactyly1CTD_human;HPO
HgeneGNASC0242184Hypoxia1CTD_human
HgeneGNASC0242216Biliary calculi1CTD_human
HgeneGNASC0334041Osteoma cutis1CTD_human;ORPHANET;UNIPROT
HgeneGNASC0346302Growth Hormone-Secreting Pituitary Adenoma1CTD_human
HgeneGNASC2932715Pseudohypoparathyroidism Type 1B1CTD_human;ORPHANET
HgeneGNASC2932716Pseudohypoparathyroidism Type 1C1ORPHANET;UNIPROT
HgeneGNASC3714756Intellectual Disability1CTD_human;HPO
TgeneFHITC0024121Lung Neoplasms2CTD_human
TgeneFHITC0025500Mesothelioma2CTD_human
TgeneFHITC0007131Non-Small Cell Lung Carcinoma1CTD_human
TgeneFHITC0023903Liver neoplasms1CTD_human
TgeneFHITC0033578Prostatic Neoplasms1CTD_human
TgeneFHITC0036341Schizophrenia1PSYGENET
TgeneFHITC0038356Stomach Neoplasms1CTD_human
TgeneFHITC0042076Urologic Neoplasms1CTD_human
TgeneFHITC0236733Amphetamine-Related Disorders1CTD_human
TgeneFHITC0236969Substance-Related Disorders1CTD_human